Intro and Question about carnitine?

My DD is 13 months old and has also been diagnosed with low muscle tone. She spent her first 2.5 months in the NICU at Children's National in Washington, DC initially due to respiratory distress. When she was admitted, a neonatalogist noticed that she was very floppy and that set off TONS of genetic and neuro testing. We were tested for SMA, Prader-Willi, etc, and everything came back negative. Metabolic testing was done as well as a carnitine panel. We remembered the metabolic coming back normal, but couldn't recall her carnitine levels.We stopped short of doing a muscle biopsy and she's showed improvement on her own and via PT 2x/week. We then found out that she had tracheomalacia, so she had a tracheostomy tube for 8 months. And her hips are dislocated.

Fast forward to now, and I've finally had time to dig into the low muscle tone stuff again and have found lots of info about carnitine deficiencies and supplements. Today, we went to her pediatrician for a normal follow-up and to have bloodwork done and we asked to have another carnitine panel run. They were unable to do the testing, but looked through her medical records and found that she did have low levels but we don't know the normal range. Her test results said 17.9mg (??)

I'm going to follow up with her neuromuscular specialist, but I'm curious if anyone here uses acetyl L-carnitine supplements with any success?

She just started sitting up at 13 months unassisted for a few minutes! I'm so incredibly proud of her! And so happy to have found this group.

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Married my buddy on June 7, 2008/Our lives became complete when Savannah was born in March 2010.

Comments (7)

When we were at the Johns Hopkins Hypotonia Center, I asked about a bunch of different supplements I'd heard about (including COQ 10 or something like that). The doctor there said the ONLY supplement that has been "shown' to work is carnitine, but that he ONLY prescribes if the levels are low. He checked my daughter's and her's was fine, but from our talk with him, it sounds like IF someone's level IS low, supplementing can help.

I don't know about the carnitine supplement - we have a diagnosed muscle disorder and it has never been brought up. But we have similar stories. My little girl is 15 months was at Childrens Hospital of Philadelphia for 77 days. She was transferred there on day 5 because she was born floppy, low tone, etc - was on a vent for a week, oxygen for the majority of her admission, she a ton of blood work done and tested for a lot of what you mentioned. Had countless procedures completed.She did have a muscle biopsy but it did not give her neurologist a diagnoses. He (her neurologist) is big into muscle ultrasounds and he diagnosed her that way when she was 5 months old and confirmed it with a blood test. Her hips are fine however, her hips along with her spine have to be followed by an orthopedic surgeon because with her specific muscle disorder it is common to have issues with hip dislocation and scoliosis. She sat all by herself the week before her 1st bday for just a couple seconds and now 3 months later she is sitting forever -. She can't push through her legs, she can't push up on her arms when on her belly, can't lift her arm straight next to her head - her shoulders are weak but getting stronger. She is consistently making grains - small and slow - but making them. Anyway, welcome to the group. I'm going to ask about the supplement but I'm pretty sure it won't help my daughter because supplements have been discussed but definintely worth bringing up. Good luck with your journey. It sounds like you have an amazing little girl.

We have a similar story as well. :) My LO is on L-carnitine. She gets it 4 times a day as a liquid with her formula. For us it costs us $20 a month.

When they did all of the blood work and genetic testing for hypotinia and resp fail, they found out that she had low carn levels which could have been because she has a mito or metabolic disorder of some sort (we rulled out the most common ones, but he said that there are tons of mito disorders so we are waiting until she is old enough for a muscle bio), or it could have been because I was pumping at the time and I was defficent so she was not getting enough through the breast milk. FYI: there usually is some carn in formula.

So now she is on a carn suppliment wich was perscribed through her geneticist/mito doctor. He said that extra carn does not hurt so if she is fine, the extra will just give her a little boost. But if her body is having issue with making carn, this will help replace it. He said that because she was on it since she was so young, we won't know if she has a defficency untill she is older. (We don't have a baseline reading so to speak) He said that once she hits a milestone like sitting, they can stop the carn and if she regresses then they know that she has a deff and will need to be on it for the rest of her life.

If he will perscribe it, I would go for it. I'm not sure what the normal range is...

My daughter is has been on L-carnitine supp for a year now. She takes 2ml 2x a day. She had a metabolic crisis last year. She had extreme ketoacidosis and lactic acidosis. While checking her bloodwork it was noted that while her total carnitine levels were normal, her level of free (available) carnitine was low. Since carnitine is a tranport amino acid the body uses it for either transporting energy into the cells or waste products out of the cells they thought it would be beneficial. At the time, she was having a lot of fatigue as well. So the geneticist prescribed the supplement bc she needed both energy and waste removal (ketones and lactic acid) for her metabolism. We are supposed to have her carnitine concentration and lactic acid checked again this year to see if we need to continue. I do believe that it has helped some although very slowly but then, that is how the body works too. We were paying $30 month for the rx. I've heard that it can be tough on the GI system at first but we didnt have any of those issues. Sometimes I can smell it in her urine but not most of the time.

My daughter takes carnitine and CoQ10 as part of her Mito cocktail. She had a muscle biopsy and tested positive for Mitochondrial disease. I have noticed her energy levels increase a little. She also has airway issues and had airway reconstruction. I do know that if your child has Mito, carnitine is used whether the labs show a defiency or not.

My twins (muscular dystrophy--SMA) take levocarnitine (carnitine) to counteract the deficiencies they experience by taking Depakote (valproic acid). But my limited understanding of the dynamic here is that anyone who doesn't eat much meat tends to have low levels of carnitine, so taking it as a supplement can be important.

The twins take 125mg Depakote along with 1tsp levocarnitine twice daily.

They don't have seizures (Depakote is typically rx'd for seizures). They're testing it out on an off-label basis for their neuromuscular disorder.

My 4 year old daughter is being tested for Crnitine levels and myotonic Dystrophy. I expect the results in 2-3 weeks. She has hypotonia and develepment delays. She didnt walk, talk or any of the 'norm' until 2 years of age. She recently was at MN Childrens Hosp for a NG "clean-out" and a rectal biopsy as she is always constipated and impacted. The results are negative for Hirshprungs, etc. She normally goes up to 2 weeks w/out a movement. I swear she has had every x-ray, every blood draw imaginable and yet they are still testing....I just wish we had some answers. But. he Genetics doc said there is a cocktail with carnitine but it is very expensive? He may add it to a trial.